Myophosphorylase deficiency: The course of an unusual congenital myopathy

J. M. Abarbanel; R. Potashnik; S. Frisher; S. W. Moses; A. Osimani; Y. Herishanu

doi:10.1212/wnl.37.2.316

Myophosphorylase deficiency: The course of an unusual congenital myopathy

J. M. Abarbanel, R. Potashnik, S. Frisher, S. W. Moses, A. Osimani, Y. Herishanu

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

6 Scopus citations

Abstract

A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was “myopathic,” serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.

Original language	English
Pages (from-to)	316-318
Number of pages	3
Journal	Neurology
Volume	37
Issue number	2
DOIs	https://doi.org/10.1212/wnl.37.2.316
State	Published - 1 Jan 1987
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1212/wnl.37.2.316

Cite this

@article{c723eb69dfed49fcb3acd0efa014f4f4,

title = "Myophosphorylase deficiency: The course of an unusual congenital myopathy",

abstract = "A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was “myopathic,” serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.",

author = "Abarbanel, {J. M.} and R. Potashnik and S. Frisher and Moses, {S. W.} and A. Osimani and Y. Herishanu",

year = "1987",

month = jan,

day = "1",

doi = "10.1212/wnl.37.2.316",

language = "English",

volume = "37",

pages = "316--318",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins Ltd.",

number = "2",

}

TY - JOUR

T1 - Myophosphorylase deficiency

T2 - The course of an unusual congenital myopathy

AU - Abarbanel, J. M.

AU - Potashnik, R.

AU - Frisher, S.

AU - Moses, S. W.

AU - Osimani, A.

AU - Herishanu, Y.

PY - 1987/1/1

Y1 - 1987/1/1

N2 - A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was “myopathic,” serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.

AB - A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was “myopathic,” serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.

UR - http://www.scopus.com/inward/record.url?scp=0023117038&partnerID=8YFLogxK

U2 - 10.1212/wnl.37.2.316

DO - 10.1212/wnl.37.2.316

M3 - Article

C2 - 3808314

AN - SCOPUS:0023117038

SN - 0028-3878

VL - 37

SP - 316

EP - 318

JO - Neurology

JF - Neurology

IS - 2

ER -

Myophosphorylase deficiency: The course of an unusual congenital myopathy

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this