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Article

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

1 Jan 1995

Abstract excerpt

An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family. Linkage of the above family to the spinal muscular atrophy type I, II and III locus on chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite...

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Identifiers

PMID: 8541851
DOI: 10.1093/hmg/4.9.1629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7pPMID 8541851Read ↗

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Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15Semantic proximity Read ↗

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Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.Semantic proximity Read ↗

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