A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy

OBJECTIVE: To identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. METHODS: We performed targeted exome sequencing on one patient presenting a deficiency in calpain 3 on Western blot but for which mutations in the gene had been excluded....

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Neurology
Huvudupphovsmän: De Cid, Rafael, Ben Yaou, Rabah, Roudaut, Carinne, Charton, Karine, Baulande, Sylvain, Leturcq, France, Romero, Norma Beatriz, Malfatti, Edoardo, Beuvin, Maud, Vihola, Anna, Criqui, Audrey, Nelson, Isabelle, Nectoux, Juliette, Ben Aim, Laurène, Caloustian, Christophe, Olaso, Robert, Udd, Bjarne, Bonne, Gisèle, Eymard, Bruno, Richard, Isabelle
Materialtyp: Artigo
Språk:Inglês
Publicerad: Lippincott Williams & Wilkins 2015
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4691685/
https://ncbi.nlm.nih.gov/pubmed/26581302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002200
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk