Clinical and genetic analysis of a family with PROMM

Raji P. Grewal; Shanxiang Zhang; Wei Ma; Michael Rosenberg; Ralf Krahe

doi:10.1016/j.jocn.2003.09.014

Clinical and genetic analysis of a family with PROMM

Raji P. Grewal, Shanxiang Zhang, Wei Ma, Michael Rosenberg, Ralf Krahe

Genetics

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Abstract

PROMM (proximal myotonic myopathy) and DM2 (myotonic dystrophy Type 2) are autosomal dominant multisystem disorders that have both been linked to chromosome 3q. Recently, the genetic basis of DM2 has been defined by a '(CCTG)_n' expansion mutation in intron 1 of the ZNF9 gene. We identified and studied a multigenerational family in which five members had clinical features consistent with PROMM. Two affected members were available for detailed clinical, electrophysiological, radiological and genetic analysis. Our study confirms that the PROMM phenotype is associated with DM2-(CCTG) _n expansion mutations. In addition, our results may extend the clinical spectrum of manifestations to include vestibular symptoms.

Original language	English (US)
Pages (from-to)	603-605
Number of pages	3
Journal	Journal of Clinical Neuroscience
Volume	11
Issue number	6
DOIs	https://doi.org/10.1016/j.jocn.2003.09.014
State	Published - Aug 2004

Keywords

PROMM
genotype
myotonia
myotonic dystrophy type 2
phenotype

ASJC Scopus subject areas

Surgery
Neurology
Clinical Neurology
Physiology (medical)

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10.1016/j.jocn.2003.09.014

Cite this

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title = "Clinical and genetic analysis of a family with PROMM",

abstract = "PROMM (proximal myotonic myopathy) and DM2 (myotonic dystrophy Type 2) are autosomal dominant multisystem disorders that have both been linked to chromosome 3q. Recently, the genetic basis of DM2 has been defined by a '(CCTG)n' expansion mutation in intron 1 of the ZNF9 gene. We identified and studied a multigenerational family in which five members had clinical features consistent with PROMM. Two affected members were available for detailed clinical, electrophysiological, radiological and genetic analysis. Our study confirms that the PROMM phenotype is associated with DM2-(CCTG) n expansion mutations. In addition, our results may extend the clinical spectrum of manifestations to include vestibular symptoms.",

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author = "Grewal, {Raji P.} and Shanxiang Zhang and Wei Ma and Michael Rosenberg and Ralf Krahe",

note = "Funding Information: R.K. was supported by the Muscular Dystrophy Association, USA, and the NIH (R01 AR48171). ",

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T1 - Clinical and genetic analysis of a family with PROMM

AU - Grewal, Raji P.

AU - Zhang, Shanxiang

AU - Ma, Wei

AU - Rosenberg, Michael

AU - Krahe, Ralf

N1 - Funding Information: R.K. was supported by the Muscular Dystrophy Association, USA, and the NIH (R01 AR48171).

PY - 2004/8

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KW - genotype

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KW - myotonic dystrophy type 2

KW - phenotype

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Clinical and genetic analysis of a family with PROMM

Abstract

Keywords

ASJC Scopus subject areas

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