Clinical heterogeneity of adhalin deficiency

Annals of Neurology
L MorandiM Mora

Abstract

We report adhalin deficiency in 8 patients with clinically diagnosed muscular dystrophy, dystrophic histopathological features, high plasma creatine kinase levels, normal expression of dystrophin, and marked variability of symptoms. Although the distribution of hyposthenia was similar in all 8 patients and predominantly involved muscles in the pelvic girdle, age at onset and rate of disease progression were highly variable: In 2 patients onset, at ages 24 and 25, was later than has been previously observed. We found no apparent relation between disease severity and the quantity of adhalin expressed. Two kinds of myopathy with adhalin deficiency have been reported: one caused by a mutation in the adhalin gene on chromosome 17 (primary adhalinopathy) and the other linked to chromosome 13. The product of the gene on chromosome 13 is probably associated with adhalin and its deficiency results in secondary adhalinopathy. The severity of clinical phenotypes in these adhalinopathies seems to relate more to the kind and site of the mutations than to the residual amount of the protein. We also detected a variable reduction in the laminin beta 1 subunit by immunohistochemistry in most patients, confirming that this is commonly associated...Continue Reading

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Citations

Apr 16, 1999·Muscle & Nerve·P MelaciniC Angelini
Nov 2, 1999·Neuromuscular Disorders : NMD·B L PattonJ R Sanes
Jun 1, 1997·Journal of Paediatrics and Child Health·K J Jones, K N North
Aug 17, 2005·Arquivos de neuro-psiquiatria·Enio Alberto ComerlatoLineu César Werneck
Apr 5, 2005·Journal of Neuropathology and Experimental Neurology·Hannes Vogel, Josef Zamecnik

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