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Article

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

Neuromuscular disorders : NMD - 1 Apr 2009

Butterfield Russell J, Ramachandran Deepa, Hasstedt Sandra J, Otterud Brith E, Leppert Mark F, Swoboda Kathryn J, Flanigan Kevin M

Abstract excerpt

We describe a novel form of juvenile recessive ALS (JRALS) affecting four of six offspring from a consanguineous first cousin marriage. The syndrome is characterized by early and prominent upper motor neuron signs, along with striking amyotrophy of the upper and lower limbs and bulbar involvement. After excluding linkage to loci with known association to ALS and other motor neuron diseases, we used a homozygosity...

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Identifiers

PMID: 19318250
DOI: 10.1016/j.nmd.2009.02.006

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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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