Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 (HMNR7)

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7(来自ICD-11)

别称:

Neuropathy, Hereditary Motor, with Myopathic Features

Hmnmyo

Neuropathy, Distal Hereditary Motor, Autosomal Recessive 7

Hmnr7

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7, is also known as neuropathy, hereditary motor, with myopathic features. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 is VWA1 (Von Willebrand Factor A Domain Containing 1). Affiliated tissues include skeletal muscle and tongue, and related phenotypes are motor axonal neuropathy and distal lower limb muscle weakness

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