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- W2023796454 abstract "Mutations in the FKRP gene account for a broad spectrum of patients ranging from CMD to the much milder LGMD2I. We describe the first 3 children with FKRP muscular dystrophy from Argentina. In all of them muscular dystrophy with deficit of alpha-dystroglycan was observed on muscle biopsy. Case 1: An 18-month-old boy with a history of poor sucking at birth, respiratory difficulties, delayed milestones, microcephaly, proximal weakness, and calf hypertrophy. CPK: 5100 IU/l. Normal brain MRI. Molecular studies: homozygous mutation c.946C>Gp.Pro318Ala. He was able to walk independently at 3 years of age. At 5 years old he was started on nocturnal non-invasive ventilation. Case 2: A 9-year-old girl with progressive weakness and hypotonia, generalized, mainly proximal and lower-limb weakness, a waddling, tiptoe gait, bilateral scapular winging, and difficulty getting up from the floor, running, and jumping. CPK: 15920 IU/l. Molecular studies: 3 heterozygous variants were identified: C.826C>A p.Leu276Ile, C.946C>G p.Pro316Ala, c.970G>C p.Glu324Gln. She is currently 10 years old and stable. Cardiological and respiratory studies are normal. Case 3: An 11-year-old boy with difficulty running since 5 years of age, calf pain, and fatigue. He had proximal muscle weakness, mainly in the lower limbs, marked calf hypertrophy, and a waddling gait. CPK: 8737 IU/l. Molecular studies: 3 heterozygous variants were identified: C.545A>G p.Tyr182Cys, C.946C>Gp.Pro316Ala, c.970G>C p.Glu324Gln. The mother showed the heterozygous variant C.545A>G p.Tyr182Cys. He is currently 13 years old, shows a waddling, tiptoe gait, difficulty climbing stairs, running, and jumping. There is no evidence of cardiomyopathy. Conclusion: Case 1 presented as a CMD while the other two mainly have a LGMD2I phenotype. The last two cases presented with two identical, not previously reported variants." @default.
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- W2023796454 date "2014-10-01" @default.
- W2023796454 modified "2023-10-13" @default.
- W2023796454 title "G.P.275" @default.
- W2023796454 doi "https://doi.org/10.1016/j.nmd.2014.06.351" @default.
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