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Article

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Neuromuscular disorders : NMD - 1 May 2011

Hackman Peter, Sandell Satu, Sarparanta Jaakko, Luque Helena, Huovinen Sanna, Palmio Johanna, Paetau Anders, Kalimo Hannu, Mahjneh Ibrahim, Udd Bjarne

Abstract excerpt

The objective is to refine the clinical and morphological phenotype and the chromosomal region of interest, in the recently reported 7q36 linked autosomal dominant limb-girdle muscular dystrophy (LGMD1 D/E), by describing four new informative Finnish families. Examinations of the patients included serum CK, neurophysiological studies, cardiac and respiratory function examinations, muscle biopsies and muscle...

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PMID: 21376592
DOI: 10.1016/j.nmd.2011.02.008

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

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