Adenosine Triphosphatases

Una comune caduta per una rara diagnosi: un caso di emicrania emiplegica

Ferrera G, Gammeri C, di Cataldo G, Gauci MC, Dierna F, Biasco A, Greco F

2024/26 — pag. 8-9 — DOI

The Authors describe the case of a three-year-old girl with hemiplegic migraine triggered by mild trauma; the diagnosis was confirmed through genomic analysis (heterozygous missense variant c.1091>T in the ATP1A2 gene). ...

Un cuore grande così... dalla nascita

Troisi A, Bruno I, Ragni L, Nuzzo A, Marchetti F

2024/2 — pag. 30-31 — DOI

The diagnosis of dilatative cardiomyopathy due to a new mutation of MYH7 gene was eventually made in a 1-month-old infant presenting with dyspnoea and difficult feeding. ...

Che strani capelli ha quel bambino?

2004/5 — pag. 326-326

The Authors described a case of a newborn affected by Menkes disease (MNK) with convulsions, connective tissue disorders and hair abnormalities. MNK is an X-linked recessive disorder characterised by a copper-transporting ATPase defect. Subcutaneo...