Myopathy, Myofibrillar, 3 (MFM3)

Myopathy, Myofibrillar, 3(来自ICD-11)

别称:

Spheroid Body Myopathy

Myotilinopathy

Myofibrillar Myopathy 3

Lgmd1a

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

Muscular Dystrophy, Limb-Girdle, Type 1a

Limb-Girdle Muscular Dystrophy Due to Myotilin Deficiency

Myopathy, Spheroid Body

Mfm3

Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

Muscular Dystrophy, Limb-Girdle, Type 1, Formerly

Qualitative or Quantitative Defects of Myotilin

Dystrophy, Muscular, Limb-Girdle, Type 1a

Myopathy, Myofibrillar, Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1

Myopathy Myofibrillar Myotylin-Related

Limb-Girdle Muscular Dystrophy 1a

Myopathy, Myofibrillar, Type 3

Distal Myotilinopathy

Mfm Myotilin-Related

Lgmd1a, Formerly

Lgmd1, Formerly

Lgmd 1a

Lgmd1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myopathy, Myofibrillar, 3, also known as spheroid body myopathy, is related to congenital myopathy 1a and nonaka myopathy, and has symptoms including waddling gait An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle and heart, and related phenotypes are pelvic girdle muscle weakness and peripheral neuropathy

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