Congenital fibre type disproportion (CFTD) is a histological abnormality characterized by small type 1 muscle fibres, normally sized type 2 fibres and absence of other pathological features [1]. Type 1 fibre hypotrophy is observed in various neuromuscular disorders; thus CFTD should refer only to cases of fibre type disproportion (FTD) having the clinical features of a congenital myopathy and when other neuromuscular conditions have been ruled out [1]. A 36 year-old man, the only son of non consanguineous parents, had a normal birth and early development. Family history was unremarkable. At age 4 he presented with difficulty in climbing stairs and serum creatine kinase (CK) was twice the normal value. On clinical examination proximal limb and spine flexor muscles were weak whereas facial and neck muscles were spared. Shortening of the Achilles tendon was observed. A biopsy of the left vastus lateralis muscle showed FTD.

Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence

NERI, Marcella;GUALANDI, Francesca;FERLINI, Alessandra;
2009

Abstract

Congenital fibre type disproportion (CFTD) is a histological abnormality characterized by small type 1 muscle fibres, normally sized type 2 fibres and absence of other pathological features [1]. Type 1 fibre hypotrophy is observed in various neuromuscular disorders; thus CFTD should refer only to cases of fibre type disproportion (FTD) having the clinical features of a congenital myopathy and when other neuromuscular conditions have been ruled out [1]. A 36 year-old man, the only son of non consanguineous parents, had a normal birth and early development. Family history was unremarkable. At age 4 he presented with difficulty in climbing stairs and serum creatine kinase (CK) was twice the normal value. On clinical examination proximal limb and spine flexor muscles were weak whereas facial and neck muscles were spared. Shortening of the Achilles tendon was observed. A biopsy of the left vastus lateralis muscle showed FTD.
2009
Vattemi, G; Tonin, P; Neri, Marcella; Marini, M; Gualandi, Francesca; Guglielmi, V; Ferlini, Alessandra; Tomelleri, G.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/1377460
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact