Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 (HMNR2)

Alias:

Distal Hereditary Motor Neuropathy, Jerash Type

Spinal Muscular Atrophy, Jerash Type

Autosomal Recessive Distal Spinal Muscular Atrophy Type 2

Neuronopathy, Distal Hereditary Motor, Jerash Type

Neuropathy, Distal Hereditary Motor, Jerash Type

Dsma2

Dhmnj

Hmnj

Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2

Neuropathy, Distal Hereditary Motor, Autosomal Recessive 2

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Distal Spinal Muscular Atrophy, Autosomal Recessive, 2

Autosomal Recessive Distal Spinal Muscular Atrophy 2

Hereditary Motor Neuropathy, Jerash Type

Motor Neuropathy, Distal, Jerash Type

Hmnr2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2, also known as distal hereditary motor neuropathy, jerash type, is related to distal spinal muscular atrophy 2 and distal hereditary motor neuronopathy type 2. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 is SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1). Related phenotypes are decreased motor nerve conduction velocity and distal muscle weakness

Related ID：

MALACARDS：NRN062

OMIM：605726

MESH：D009134