In:
Muscle & Nerve, Wiley, Vol. 55, No. 4 ( 2017-04), p. 582-590
Kurzfassung:
Introduction : Mutations in the Fukutin related protein ( FKRP ) gene are characterized by a lack of functionally glycosylated α‐dystroglycan (F‐α‐DG) in muscles. A small number of fibers retain the capacity to produce strong IIH6 reactive glycosylated‐α‐DG (g‐α‐DG) in muscles of both FKRP mutant animals and patients. Methods : We examined the expression of g‐α‐DG in limb, diaphragm, and cardiac muscles of newborn FKRP mutants and LARGE myd mice with IIH6 antibody. Results : Near‐normal levels of g‐α‐DG were detected in all 3 muscles in the FKRP448LNeo ‐ mutant. Expression was limited within the first 8 postnatal days with decreasing levels. No expression was identified in LARGE myd mice. Conclusions : Temporary expression of glycosylated‐α‐DG in newborn FKRP mutant muscles is LARGE ‐ and mutant FKRP ‐dependent. The capability of mutant FKRP with a severe clinic phenotype to produce glycosylated‐α‐DG provides a new perspective for possible approaches to mitigate FKRP deficiency. Muscle Nerve 55 : 582–590, 2017
Materialart:
Online-Ressource
ISSN:
0148-639X
,
1097-4598
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2017
ZDB Id:
1476641-3
SSG:
12