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Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy

โœ Scribed by G. Uziel; F. Cornelio; C. Gellera; G. Perego; M. Rimoldi; S. Donato

Book ID
105504440
Publisher
Springer Milan
Year
1986
Tongue
English
Weight
402 KB
Volume
7
Category
Article
ISSN
1590-1874

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๐Ÿ“œ SIMILAR VOLUMES

Myoadenylate deaminase deficiency: absen
Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies
โœ Rudolf Mercelis; Jean-Jacques Martin; Thierry Barsy; Georges Berghe ๐Ÿ“‚ Article ๐Ÿ“… 1987 ๐Ÿ› Springer ๐ŸŒ English โš– 715 KB

A histochemical assay was routinely performed of myoadenylate deaminase (MAD) in muscle biopsy specimens. MAD was absent in 13 cases, i.e. 2.9% of the specimens. In 10 cases the deficiency was confirmed biochemically. The diagnoses in the 13 patients were: polyneuropathy (n = 5), infantile spinal mu