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Article

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy.

Journal of the neurological sciences - 1 Apr 1996

Martinuzzi A, Tsujino S, Vergani L, Schievano G, Cadaldini M, Bartoloni L, Fanin M, Siciliano G, Shanske S, DiMauro S, Angelini C

Abstract excerpt

We studied a group of 14 patients from Northern Italy with myophosphorylase deficiency. The disease presented considerable clinical and biochemical heterogeneity, which was reflected at the molecular level. The clinical presentation was typical in 3 patients, mild in 7 (exercise intolerance), and...

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PMID: 9120482
DOI: 10.1016/0022-510x(95)00298-g

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9120482-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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