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Article

Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.

Journal of neurology - 1 Aug 2003

Butz Miriam, Koch Manuela C, Müller-Felber Wolfgang, Lemmers Richards J L F, van der Maarel Silvère M, Schreiber Herbert

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is associated with a decreased number of D4Z4 repeats on chromosome 4q35. Diagnostic difficulties arise from atypical clinical presentations and from an overlap in D4Z4 numbers between controls and FSHD individuals. Thus, a molecular genetic test result with a borderline D4Z4 number has its limitations for the clinician wanting to differentiate between the diagnosis...

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Source

Identifiers

PMID: 12928911
DOI: 10.1007/s00415-003-1116-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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