Autophagic vacuolar myopathy in twin girls

Neuropathology and Applied Neurobiology
J L HoltonA Al-Memar

Abstract

Hereditary autophagic vacuolar myopathy (AVM) may occur in several diseases including the rimmed vacuolar myopathies, acid maltase deficiency, Danon disease, infantile autophagic vacuolar myopathy and X-linked myopathy with excessive autophagy (XMEA). In the latter three conditions the vacuoles are lined by membranes with sarcolemmal features. We present two unusual cases of autophagic vacuolar myopathy in twin girls born at term with no family history of neurological disease. After initial normal developmental milestones they developed progressive leg weakness and wasting with contractures from the age of 12 years. Investigations showed raised CK, normal female karyotype, normal acid maltase activity, normal nerve conduction and myopathic EMG features. Frozen sections of skeletal muscle were stained using routine tinctorial and histochemical methods. Immunohistochemical staining for spectrin, merosin, dystrophin, complement membrane attack complex and sarcoglycans was performed and ultrastructural examination undertaken. Direct sequence analysis of the lamp-2 gene using genomic DNA extracted from lymphocytes was performed. Histological analysis of the muscle biopsies demonstrated myofibres with vacuoles lacking glycogen and li...Continue Reading

References

Mar 1, 1988·Annals of Neurology·H KalimoA Salminen
Jan 1, 1973·Neurology·A G EngelE H Lambert
Jan 1, 1981·Neurology·M J DanonL H Schliselfeld
Mar 1, 1995·Neuromuscular Disorders : NMD·N MurakamiI Nonaka
Dec 16, 1998·Journal of the Neurological Sciences·Y MorisawaI Nonaka
Apr 11, 2000·European Journal of Human Genetics : EJHG·L VillardM Fontes
May 11, 2000·Annals of Neurology·M AuranenB A Minassian
May 23, 2001·Neuromuscular Disorders : NMD·B ChabrolJ F Pellissier
Jan 1, 2003·Current Neurology and Neuroscience Reports·Ichizo Nishino

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Citations

Apr 2, 2008·Congenital Heart Disease·Zhao Yang, Matteo Vatta
Jan 18, 2013·Neuropathology and Applied Neurobiology·W StenzelH-H Goebel
Feb 27, 2009·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Charis KepronSarah Keating
Oct 9, 2019·Annual Review of Pathology·Marta Margeta
Jun 24, 2010·Ultrastructural Pathology·Valentina PapaGiovanna Cenacchi
Mar 5, 2016·Chemistry : a European Journal·Baogang WangTing Wang

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