Congenital Myopathy with Type 2A 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

doi:10.1055/s-2008-1071303

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Neuropediatrics 1992; 23(1): 10-13
DOI: 10.1055/s-2008-1071303

Original article

Congenital Myopathy with Type 2A Muscle Fiber Uniformity and Smallness

A. Gallanti¹ , A. Prelle¹ , L. Chianese¹ , S. Barbieri¹ , S. Jann¹ , S. Schiaffino² , A. Comini¹ , E. Scarpini¹ , G. Pellegrini¹ , M. Moggio¹ , G. Scarlato¹

¹Università degli Studi di Milano, Istituto di Clinica Neurologica, Centro "Dino Ferrari"
²Università degli Studi di Padova, Istituto di Patologia Generale

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Publication History

Publication Date:
19 March 2008 (online)

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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.

Key words

Congenital myopathies - Type 2 A fibers - Myosin