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Results 1 - 10 of 10 for Autosomal recessive distal myopathy
  1. GNE myopathy 
    ... body myopathy type 2 Inclusion body myopathy, hereditary, autosomal recessive Inclusion body myopathy, quadriceps-sparing Nonaka distal myopathy Nonaka myopathy QSM Quadriceps-sparing myopathy Genetic ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
  2. Miyoshi myopathy 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... Genetic Testing Registry: Miyoshi ...
    https://medlineplus.gov/genetics/condition/miyoshi-myopathy - Genetics
  3. DYSF gene 
    ... lower leg and helps to flex the foot. Distal myopathy with anterior tibial onset later affects the ... girdle muscular dystrophy 2B (autosomal recessive) dystrophy-associated fer-1-like 1 fer-1- ...
    https://medlineplus.gov/genetics/gene/dysf - Genetics
  4. CAV3 gene 
    ... caveolin-3 gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. ... Rippling Muscle Disease. J Neurol Neurosurg Psychiatry. 2008 ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  5. Rippling muscle disease 
    ... pattern, but it is occasionally inherited in an autosomal recessive pattern.Autosomal dominant inheritance means that one copy ... with no history of caveolinopathies in their family.Autosomal recessive inheritance means that both copies of the CAV3 ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
  6. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - National Institutes of Health
  7. Myoclonic epilepsy myopathy sensory ataxia 
    ... MEMSA. POLG 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 ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  8. Glycogen storage disease type VII 
    ... others. PFKM 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 ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-vii - Genetics
  9. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  10. GNE gene 
    ... M, Varon D, Lambert MP. GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. Blood. 2018 Oct ...
    https://medlineplus.gov/genetics/gene/gne - Genetics