Congenital myopathy with type 2 A muscle fiber uniformity and smallness

A. Gallanti; A. Prelle; L. Chianese; S. Barbieri; S. Jann; S. Schiaffino; A. Comini; E. Scarpini; G. Pellegrini; M. Moggio; G. Scarlato

Congenital myopathy with type 2 A muscle fiber uniformity and smallness

A. Gallanti, A. Prelle, L. Chianese, S. Barbieri, S. Jann, S. Schiaffino, A. Comini, E. Scarpini, G. Pellegrini, M. Moggio, G. Scarlato

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

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

Abstract

We describe a 12-year-old girl with congenital myopathy. ATPase histochemical reactions and immunocytochemical analysis of muscle fiber-type composition with monoclonal antibodies against slow, fast (2 A and 2 B) and fetal myosin demonstrate that this congenital disease is characterized by type 2 A muscle fiber uniformity and smallness. This is an unusual feature for a congenital myopathy in which the fiber type predominance, when present, is confined to type I.

Original language	English
Pages (from-to)	10-13
Number of pages	4
Journal	Neuropediatrics
Volume	23
Issue number	1
Publication status	Published - 1992

Keywords

Congenital myopathies
Myosin
Type 2 A fibers

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health

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abstract = "We describe a 12-year-old girl with congenital myopathy. ATPase histochemical reactions and immunocytochemical analysis of muscle fiber-type composition with monoclonal antibodies against slow, fast (2 A and 2 B) and fetal myosin demonstrate that this congenital disease is characterized by type 2 A muscle fiber uniformity and smallness. This is an unusual feature for a congenital myopathy in which the fiber type predominance, when present, is confined to type I.",

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AU - Gallanti, A.

AU - Prelle, A.

AU - Chianese, L.

AU - Barbieri, S.

AU - Jann, S.

AU - Schiaffino, S.

AU - Comini, A.

AU - Scarpini, E.

AU - Pellegrini, G.

AU - Moggio, M.

AU - Scarlato, G.

PY - 1992

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N2 - We describe a 12-year-old girl with congenital myopathy. ATPase histochemical reactions and immunocytochemical analysis of muscle fiber-type composition with monoclonal antibodies against slow, fast (2 A and 2 B) and fetal myosin demonstrate that this congenital disease is characterized by type 2 A muscle fiber uniformity and smallness. This is an unusual feature for a congenital myopathy in which the fiber type predominance, when present, is confined to type I.

AB - We describe a 12-year-old girl with congenital myopathy. ATPase histochemical reactions and immunocytochemical analysis of muscle fiber-type composition with monoclonal antibodies against slow, fast (2 A and 2 B) and fetal myosin demonstrate that this congenital disease is characterized by type 2 A muscle fiber uniformity and smallness. This is an unusual feature for a congenital myopathy in which the fiber type predominance, when present, is confined to type I.

KW - Congenital myopathies

KW - Myosin

KW - Type 2 A fibers

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