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Article

Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.

Neuromuscular disorders : NMD - 1 Feb 2016

Rudnik-Schöneborn Sabine, Barisić Nina, Eggermann Katja, Ortiz Brüchle Nadina, Grđan Petra, Zerres Klaus

Abstract excerpt

Two Croatian siblings with atypical clinical findings in the presence of SMN1 gene mutations are reported. The girl presented with delayed motor development and weakness in hands and feet in her first year of life. She never stood or walked and developed scoliosis and joint contractures during childhood. Her hands and feet were non-functional when last seen at age 14 years. Her 4-year-old brother was more...

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Source

Identifiers

PMID: 26794302
DOI: 10.1016/j.nmd.2015.12.003

Genes

SMN1

Provenance

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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