Myotonic dystrophy-like myopathy

MedGen UID:: 865041
•Concept ID:: C4016604
•: Finding

Synonym:	MYOTONIC DYSTROPHY-LIKE MYOPATHY

OMIM®:	590000

Recent clinical studies

Diagnosis

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S
Eur J Hum Genet 2016 Oct;24(10):1467-72. Epub 2016 May 25 doi: 10.1038/ejhg.2016.41. PMID: 27222292 Free PMC Article

Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands.

Moxley RT 3rd, Meola G, Udd B, Ricker K
Neuromuscul Disord 2002 Mar;12(3):306-17. doi: 10.1016/s0960-8966(01)00284-x. PMID: 11801405

The utility of the determination of CTG trinucleotide repeat length in hypotonic infants.

Bodensteiner JB, Byler DL, Jaynes ME
Semin Pediatr Neurol 1999 Sep;6(3):243-5; discussion 245-6. doi: 10.1016/s1071-9091(99)80022-9. PMID: 10522348

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Prognosis

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S
Eur J Hum Genet 2016 Oct;24(10):1467-72. Epub 2016 May 25 doi: 10.1038/ejhg.2016.41. PMID: 27222292 Free PMC Article

See all (1)

Clinical prediction guides

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S
Eur J Hum Genet 2016 Oct;24(10):1467-72. Epub 2016 May 25 doi: 10.1038/ejhg.2016.41. PMID: 27222292 Free PMC Article

See all (1)

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Myotonic dystrophy-like myopathy

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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