Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive (CMT2RV)

Alias:

Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis

Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive

Charcot-Marie-Tooth Neuropathy Axonal with Vocal Cord Paresis Autosomal Recessive

Cmt2 with Vocal Cord Paresis, Autosomal Recessive

Charcot-Marie-Tooth Disease, Type 4a, Axonal Form

Cmt2 with Vocal Cord Paresis Autosomal Recessive

Charcot-Marie-Tooth Axonal Type 4a

Cmt2rv

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Gene & Mutation

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References Literature

Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive, also known as charcot-marie-tooth disease, axonal, with vocal cord paresis, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, axonal, type 2k. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Affiliated tissues include peripheral nerve, and related phenotypes are proximal muscle weakness in lower limbs and proximal muscle weakness in upper limbs

Related ID：

MALACARDS：CHR655

OMIM：607706

MESH：D002607