obsolete distal hereditary motor neuronopathy type 7A

Term ID

DOID:0111201

Synonyms

• DHMN7A
• distal hereditary motor neuropathy type VIIA
• distal spinal muscular atrophy with vocal cord paralysis type 7A
• Harper-Young myopath
• HMN VIIA
• HMN7A

Definition

A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. https://www.ncbi.nlm.nih.gov/pubmed/23141292

References

Obsolete

true

Secondary ID:

Merged into

autosomal dominant distal hereditary motor neuronopathy 7

Ontology

  ( DOID:0111201 )