myopathy

Saper riconoscere la dermatomiosite giovanile

Gennaro B, Marino S, Marino S, Tardino L, Sciuto C, Privitera G, Barone P, La Spina M

2026/4 — pag. 104-105 — DOI

The case reports the diagnostic process of an 8-year-old girl presenting with progressive proximal muscle weakness, fatigue and frequent falls. The clinical challenge required a careful differential diagnosis between metabolic myopathies, muscular dy...

IperCPKemia in Pediatria: approccio pratico e confronto con le linee guida

Vaivoda A, Pastore S

2023/1 — pag. 15-16 — DOI

In this retrospective, single-centre study, the Authors analyse the cause of the high blood value of the creatinphosphokinase enzyme (CPK). Even if severe diseases as muscular dystrophy are usually associated with high (> ten time normal value) blood...

Vitamina D e rachitismo carenziale

A. Agrusti, S. Contorno, I. Bruno, G. Gortani, E. Barbi

2020/7 — pag. 426-429 — DOI

Mouhamed, a 7-year-old boy of African origin, presented with progressive fatigue and difficulty in walking. He was never treated with vitamin D supplementation. The evaluation of his calcium-phosphorus metabolism revealed a myopathy related to severe...

Le malattie mitocondriali

M. Carrozzi

2005/1 — pag. 8