*  Fukuyama congenital muscular dystrophy - Genetics Home Reference
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations ... where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama ... Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning ... Yoshioka M, Kuroki S. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am J Med Genet. 1994 Nov ...
  https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy
*  Dysferlin - Wikipedia
"Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage ... "Entrez Gene: DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)". Leiden University Medical Center, Center ... distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14". Neurology. 45 (4): 768-72. doi:10.1212/wnl.45.4. ... "A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p". Hum. Mol. Genet. 3 (3): 455-7. doi: ...
  https://en.wikipedia.org/wiki/Dysferlin
*  Neuromuscular Disorders affecting Young Dogs and Cats (1999) - NeuroVet - VIN
In dogs and cats, X-linked forms are well characterized. Canine X-linked MD - The X-linked muscular dystrophy has been ... An autosomal recessive myopathy has been described in Devon rex cats.62,63 Clinical signs are observed between 1 and 6 months ... In humans more than 20 diseases have been characterized based on genetic as well as clinical features.23 Both X-linked and ... Muscular Dystrophies. Muscular dystrophy (MD) is a general term that refers to a large group of inherited and progressively ...
  http://www.vin.com/apputil/content/defaultadv1.aspx?pId=11157&meta=Generic&catId=29683&id=3857014&ind=5&objTypeID=17
*  Genetic testing for Congenital Muscular Dystrophy or LGMD | Blueprint Genetics
The panel is a 33 gene test for genetic diagnostics of congenital muscular dystrophy or limb-girdle muscular dystrophy LGMD ... is inherited in an autosomal dominant or recessive manner. More than 50 loci have been associated to different forms of LGMD, ... Muscular dystrophy, limb-girdle. AD. 10. 12. DYSF Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal ... Muscular dystrophy, limb-girdle. AR. 2. 3. LMNA Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular ...
  https://blueprintgenetics.com/tests/panels/neurology/lgmd-and-congenital-muscular-dystrophy-panel/
*  Emery-Dreifuss muscular dystrophy
The muscular dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes ... EDMD is a genetically heterogenous disorder with X-linked recessive, autosomal dominant, and autosomal recessive forms [1]. ... Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A ... Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J ...
  https://www.uptodate.com/contents/emery-dreifuss-muscular-dystrophy
*  NIH Guide: PATHOGENESIS AND THERAPY OF THE MUSCULAR DYSTROPHIES
Facioscapulohumeral (FSH) muscular dystrophy is an autosomal dominant form that initially affects muscles of the face (facio), ... The limb-girdle muscular dystrophies (LGMD) are genetically heterogeneous, with both dominant and recessive forms reported. All ... The following general examples are relevant to several forms of muscular dystrophy: o examine genetic heterogeneity, and search ... Emery-Dreifuss muscular dystrophy (EMD), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or other forms of ...
  https://grants.nih.gov/grants/guide/pa-files/PA-98-044.html
*  PMCMP - Clinical: Postmortem Cardiomyopathy Panel
... however X-linked and autosomal recessive forms of disease are also present. In some cases, compound heterozygous or homozygous ... limb-girdle muscular dystrophy (LGMD), Emory muscular dystrophy (EMD), congenital heart defect (CHD), sudden infant death ... Overall, the cardiomyopathies are some of the most common genetic disorders. The inherited forms of cardiomyopathy include ... The hereditary forms of cardiomyopathy are most frequently associated with an autosomal dominant form of inheritance, ...
  https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/65560
*  Congenital Myopathies - Nemaline myopathy (rod body disease) | Muscular Dystrophy Association
It can be inherited in an autosomal recessive or autosomal dominant pattern, meaning it can be produced by defective genes ... This disease is caused by a variety of genetic defects, each one affecting one of the filament proteins required for muscle ... For adults, even noncongenital forms of the disease can cause life-threatening respiratory problems. Adults also might ... The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization. ...
  https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy
*  Phosphoglycerate mutase - Wikipedia
... a rare autosomal recessive genetic disorder with symptoms ranging from mild to moderate; is not thought life-threatening and ... This presents as a metabolic myopathy and is one of the many forms of syndromes formerly referred to as muscular dystrophy.[ ... Yeast PGM≈74% conserved vs mammal form). In mammals, the enzyme subunits appear to be either a muscle-derived form (m-type) or ... In the cofactor-dependent enzyme's initial state, the active site contains a phosphohistidine complex formed by phosphorylation ...
  https://en.wikipedia.org/wiki/Phosphoglycerate_mutase
*  Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo | Journal of Cell Science
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21,285 -288. ... and those that rarely form nuclear foci (`RARE FOCI'). Those that form emerin-positive foci are `em+', whereas those that form ... cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am. J. Hum. Genet. 70,726 ... with variability caused by genetic background (Morris, 2001). In three other diseases, the molecular effects of lamin A/C ...
  http://jcs.biologists.org/content/116/14/3027
*  Plus it
There are at least three genetic subtypes: one is an autosomal recessive localized to chromosome 1, which becomes manifest in ... a serine-rich protein responsible for a form of muscular dystrophy), and sterol regulatory element-binding protein-1c. Acquired ... Gut hormones may cause satiety in three forms: 1) acute toxicity, causing nausea and vomiting, a physiologic effect in that it ... Dunaif suggested that genetic variants may lead to high androgen levels, in some individuals in utero, while in others during ...
  http://care.diabetesjournals.org/content/30/7/1934
*  Limb-girdle muscular dystrophy - Wikipedia
... family is autosomal recessive. Limb-girdle muscular dystrophy is explained in terms of gene, locus, OMIM and type as follows: ... which will show the presence of muscular dystrophy, and genetic testing is used to determine which type of muscular dystrophy a ... There is a variety of research under way targeted at various forms of limb-girdle muscular dystrophy. Among the methods thought ... Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare ...
  https://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy
*  Congenital muscular dystrophy - Wikipedia
... is a rare form of congenital muscular dystrophy (autosomal recessive disorder) causing a lack of normal muscle tone which can ... The DDx of congenital muscular dystrophy, in an affected individual, is as follows(non-neuromuscular genetic conditions it ... Muscular dystrophies Ullrich Congenital Muscular Dystrophy Fukuyama Congenital Muscular Dystrophy Sparks, Susan; Quijano-Roy, ... One finds that congenital muscular dystrophies can be either autosomal dominant or autosomal recessive in terms of the ...
  https://en.wikipedia.org/wiki/Congenital_muscular_dystrophy
*  Poly(A)-binding protein - Wikipedia
Oculopharyngeal muscular dystrophy (OPMD) is a genetic condition that occurs in adulthood often after the age of 40. This ... The disease can be inherited as an autosomal dominant or recessive trait. Mutations of poly(A)-binding protein nuclear 1 ( ... This binding forms the characteristic loop structure of eukaryotic protein synthesis. Poly(A)-binding proteins in the cytosol ... "Oculopharyngeal muscular dystrophy". Genetics Home Reference. National Library of Medicine. "Oculopharyngeal Muscular Dystrophy ...
  https://en.wikipedia.org/wiki/Poly(A)-binding_protein
*  SYNE1 Gene - GeneCards | SYNE1 Protein | SYNE1 Antibody
Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A form of Emery-Dreifuss muscular dystrophy, a ... Autosomal Recessive 8 and Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant. Among its related pathways are Cell Cycle, ... Genetic Association Database (GAD) SYNE1 Human Genome Epidemiology (HuGE) Navigator SYNE1 Atlas of Genetics and Cytogenetics in ... emery-dreifuss muscular dystrophy 2, ad. *autosomal dominant emery-dreifuss muscular dystrophy ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNE1
*  Familial partial lipodystrophy - Wikipedia
Cardiomyopathy and muscular dystrophy may occur rarely. Xanthoma and nail changes may occur. Type 3 is due to mutations in the ... It is inherited in an autosomal recessive fashion and has been reported in only one patient to date. Features included fat loss ... This form was first described in 1975. Type 2 (Dunnigan Variety, FPL2) is the most common form and is due to mutations in the ... Familial partial lipodystrophy (FPL), also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic condition ...
  https://en.wikipedia.org/wiki/Familial_partial_lipodystrophy
*  Disorders of glycosylation - Renal and Urology News
The genetic transmission of CDG is autosomal recessive, with the exception of the hereditary multiple exostoses syndromes, ... Disorders affecting O-glycosylation defects are associated with different forms of muscular dystrophy such as Walker-Warburg ... Fukuyama congenital muscular dystrophy, limb-girdle muscular dystrophy type 2I, and congenital muscular dystrophy type 1D. In ... Most of these disorders are autosomal recessive in origin, with only a few exceptions (see above). Overall these disorders are ...
  http://www.renalandurologynews.com/pediatrics/disorders-of-glycosylation/article/621189/
*  Cytogenetics sub-cluster 37
A hereditary form of spinal muscular atrophy (SMA) caused by an autosomal recessive gene has been reported for American Brown- ... The congenital muscular dystrophies (CMD) constitute a clinically and genetically heterogeneous group of autosomal recessive ... Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to ... ... Epidermolysis bullosa simplex with muscular dystrophy (OMIM 226670) is an autosomal recessive disorder caused by mutations of ...
  http://www.biomedsearch.com/cluster/35/Cytogenetics/sub-37-p3.html
*  Anti-Lamin A/C Antibody, clone 14 | 05-714
Defects in LMNA are a cause of Emery-Dreifuss muscular dystrophy type 3 (EDMD3) [MIM:604929]. EDMD3 is an autosomal recessive ... Heterozygous mutations in LMNA have recently been identified in kindreds with the variant form of muscular dystrophy (MD) known ... 3, e110). To explore the mechanism that leads to HR-induced silencing, a genetic screen was carried out based on the silencing ... Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, ...
  http://www.merckmillipore.com/INTL/en/product/Anti-Lamin-A/C-Antibody-clone-14,MM_NF-05-714
*  Muscle Diseases
Autosomal dominant form Fri, 31 Jul 2015 , Muscle Diseases Autosomal dominant (and recessive) Emery-Dreifuss muscular dystrophy ... Genetic testing Wed, 27 May 2015 , Muscle Diseases DNA testing is now a major diagnostic tool in familial periodic paralysis. ... including a form of congenital muscular dystrophy (MDC1C), WWS phenotype and a relatively mild form of limb-girdle muscular ... Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM 156225, LAMA2 gene coding for a2 chain of lami ...
  https://www.fitness-vip.com/muscle-diseases/
*  Hereditary Sensory and Motor Neuropathy - Dejerine Sottas Disease Summary Report | CureHunter
... pathological and genetic studies.". 01/01/2001 - "To determine A-waves of a family with autosomal recessive form of ... limb-girdle muscular dystrophy 2C (LGMD2C), congenital myasthenic syndrome (CMS) and spinal muscular atrophy (SMA). ". ... autosomal recessive disorders for these clinical and genetic studies: hereditary motor and sensory neuropathy type Lom (HMSNL ... 12/01/2009 - "Hereditary Motor and Sensory Neuropathy -- Russe (HMSNR) is a severe autosomal recessive disorder, identified in ...
  http://www.curehunter.com/public/keywordSummaryD015417-Hereditary-Sensory-and-Motor-Neuropathy-Dejerine-Sottas-Disease.do
*  Walker-Warburg syndrome
... (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye ... although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific ... Walker-Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye ... Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular ...
  http://www.diseaseinfosearch.org/result/7436
*  Genetic Testing facts, information, pictures | Encyclopedia.com articles about Genetic Testing
Make research projects and school reports about Genetic Testing easy with credible articles from our FREE, online encyclopedia ... and pictures about Genetic Testing at Encyclopedia.com. ... It is the most common autosomal recessive genetic disease found ... Genetic Discrimination; Genetic Testing: Ethical Issues; Inheritance Patterns; Metabolic Diseases; Muscular Dystrophy; ... Genetic Testing of Newborns. The most common form of genetic testing is the screening of blood taken from newborn infants for ...
  https://www.encyclopedia.com/science-and-technology/biology-and-genetics/genetics-and-genetic-engineering/genetic-testing
*  Epidermolysis Bullosa Simplex
They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases. ... Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that ... The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy ... Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. ...
  http://www.diseaseinfosearch.org/Epidermolysis+Bullosa+Simplex/8318
*  Ullrich congenital muscular dystrophy - Wikipedia
This sub-type of muscular dystrophy is autosomal recessive in nature. COL6A1 plays an important part in maintaining the human ... Muscular dystrophy Congenital muscular dystrophy "Ullrich congenital muscular dystrophy , Disease , Treatment , Genetic and ... Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with variants of type VI ... MRI Biopsy muscle Genetic testing Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and ...
  https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy