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Autosomal recessive "limb-girdle" muscular dystrophy
- ... individuals eventually require wheelchair assistance. DYSF_HUMAN dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) dystrophy-associated fer-1-like 1 fer-1- ...
- ... the disorder that have an inheritance pattern called autosomal recessive.Calpainopathy, or limb-girdle muscular dystrophy type 2A, is caused by mutations in the ...
- ... G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to ...
- ... both copies of the gene in each cell (autosomal recessive inheritance pattern).A small number of people with limb-girdle muscular dystrophy type 2F have developed a heart condition called ...
- ... The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they ... Muscular Dystrophy Genetic Testing Registry: Collagen 6-related myopathy ...
- ... ClinVar Allamand V, Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 ...
- ... to the signs and symptoms of LAMA2-related muscular dystrophy. LAMA2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Distal muscular dystrophy, Miyoshi type Miyoshi distal myopathy Miyoshi muscular dystrophy ...
- ... a feature of other muscle disorders such as limb-girdle muscular dystrophy. The prevalence of rippling muscle disease is unknown. ... cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a heart disorder called hypertrophic ...
- ... This Health Condition MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy More About This Health Condition MedlinePlus Genetics provides ...