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Article

Severe spinal muscular atrophy variant associated with congenital bone fractures.

Journal of child neurology - 1 Sept 2002

Felderhoff-Mueser Ursula, Grohmann Katja, Harder Anja, Stadelmann Christine, Zerres Klaus, Bührer Christoph, Obladen Michael

Abstract excerpt

Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical...

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Source

Identifiers

PMID: 12503654
DOI: 10.1177/088307380201700915

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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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