Adult form acid maltase deficiency. A case report.:A Case Report

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• The case of a 26 year old man with acute respiratory difficulty was reported. Morphological and biochemical analysis of biopsied gastrocnemius muscle indicated a diagnosis of adult form acid maltase deficiency. Clinically, the most interesting point of our case wasthe presence of a thickening of the posterior papillary muscles and chordae without any functional disturbance, which was detected by echocardiogram. Another interesting point of our case was the existence of a sibling who died of progressive muscular dystrophy at the age of 31 years. This may raise the possibility that we are dealing with a familial type of adult form acid mlatase deficiency.

• 社団法人　日本内科学会の論文

社団法人　日本内科学会 | 論文

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