PMID: 7539316Mar 1, 1995Paper

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy

Neuromuscular Disorders : NMD
N MurakamiI Nonaka

Abstract

Muscle biopsies from three patients with cardiomyopathy, mental retardation and increased serum creatine kinase levels revealed scattered fibers with tiny intracytoplasmic vacuoles containing basophilic and acid phosphatase-positive material and slightly increased amounts of PAS-positive granules. These findings are consistent with those seen in the so-called lysosomal glycogen storage disease with normal acid maltase. In addition to the vacuoles, there were occasional folds or indentations in the sarcolemma which were connected to the membrane enclosing the vacuoles. These membranes were well demonstrated histochemically by the nonspecific esterase and acetylcholinesterase stains. On electron microscopy, most of the vacuoles were bounded by membranes with basal lamina. The vacuolar membrane stained positively with antibodies raised to dystrophin, dystrophin-associated glycoproteins, laminin and type 4 collagen, and it was identical to the sarcolemma and its basal lamina. Therefore, the membrane abnormality which causes sarcolemmal folding is probably critical to understanding the pathomechanism of this disease.

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Citations

Dec 17, 2010·Journal of Inherited Metabolic Disease·Sarah-Louise CottinetFrançois Labarthe
Jan 1, 2003·Current Neurology and Neuroscience Reports·Ichizo Nishino
Dec 16, 1998·Journal of the Neurological Sciences·Y MorisawaI Nonaka
Oct 17, 2003·Neuromuscular Disorders : NMD·Kazuma SugieIchizo Nishino
Feb 3, 2010·Rinshō shinkeigaku = Clinical neurology·Ichizo Nishino
Jul 16, 2010·Neuromuscular Disorders : NMD·M C E HermansC G Faber
Apr 18, 2009·Muscle & Nerve·Frédérique SabourdyThierry Levade
Apr 2, 2008·Congenital Heart Disease·Zhao Yang, Matteo Vatta
Apr 28, 2006·Neuropathology and Applied Neurobiology·J L HoltonA Al-Memar
Oct 10, 2006·Seminars in Pediatric Neurology·Ichizo Nishino
Jul 6, 2001·Muscle & Nerve·S DiMauro, C Lamperti
Nov 8, 2019·Neuropathology and Applied Neurobiology·G CenacchiC Angelini
May 19, 2020·Brain Pathology·Dorothea MairJoachim Weis
Jun 28, 2005·Journal of Neuropathology and Experimental Neurology·Kazuma SugieIchizo Nishino

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