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"Limb-girdle" muscular "dystrophy," recessive
- ... individuals eventually require wheelchair assistance. DYSF_HUMAN dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) dystrophy-associated fer-1-like 1 fer-1- ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE ...
- ... Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to ...
- ... 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 ...
- ... ANO5 gene have been identified in people with limb-girdle muscular dystrophy type 2L. Limb-girdle muscular dystrophy is a group of related disorders characterized by ...
- ... of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the ... J, Pegoraro E. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve. 2011 Nov; ...
- ... This Health Condition MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy More About This Health Condition LAMA2_HUMAN laminin ...
- ... 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 ...