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Article

Spinal muscular atrophy variant with congenital fractures.

American journal of medical genetics - 5 Nov 1999

Kelly T E, Amoroso K, Ferre M, Blanco J, Allinson P, Prior T W

Abstract excerpt

A single report of brothers born to first-cousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and muscle biopsies were consistent with a form of spinal muscular atrophy. Molecular studies identified no abnormality...

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Source

Identifiers

PMID: 10528250
DOI: 10.1002/(sici)1096-8628(19991105)87:1<65::aid-ajmg13>3.0.co;2-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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