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Article

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.

Neuromuscular disorders : NMD - 1 May 2013

Masciullo M, Iannaccone E, Bianchi M L E, Santoro M, Conte G, Modoni A, Monforte M, Tasca G, Laschena F, Ricci E, Silvestri G

Abstract excerpt

Here we describe the first case of myotonic dystrophy type 1 (DM1) associated with facio-scapulo-humeral dystrophy (FSHD). From a clinical point of view, the patient displayed a pattern of muscle involvement reminiscent of both disorders, including hand-grip myotonia, facial, axial and distal limbs muscle weakness as well as a bilateral winged scapula associated with atrophy of the pectoralis major muscle and...

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Source

Identifiers

PMID: 23466272
DOI: 10.1016/j.nmd.2013.02.002

Genes

DMPK

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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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