2005
DOI: 10.1212/01.wnl.0000157654.59374.e5
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LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

Abstract: LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I.

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Cited by 65 publications
(57 citation statements)
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“…Similar to that observed in the skeletal muscles, dystrophin expression improved further with the increase in doses. A measure of (1)(2)(3)(4)(5)(6), heart tissues (7-11) and cadiomyocytes (12)(13)(14). 1, sample from control TA muscle; 12, freshly isolated cardiomyocytes without treatment; 2, 3, 7, 8 and 13, 2 days after 50 mg ml -1 morpholinoE23 treatment; 4, 5, 9, 10 and 14, 5 days after the treatment; 6 and 11, 7days after the treatment.…”
Section: Higher Doses Of Morpholinoe23 Induced Dystrophin Expression mentioning
confidence: 99%
See 1 more Smart Citation
“…Similar to that observed in the skeletal muscles, dystrophin expression improved further with the increase in doses. A measure of (1)(2)(3)(4)(5)(6), heart tissues (7-11) and cadiomyocytes (12)(13)(14). 1, sample from control TA muscle; 12, freshly isolated cardiomyocytes without treatment; 2, 3, 7, 8 and 13, 2 days after 50 mg ml -1 morpholinoE23 treatment; 4, 5, 9, 10 and 14, 5 days after the treatment; 6 and 11, 7days after the treatment.…”
Section: Higher Doses Of Morpholinoe23 Induced Dystrophin Expression mentioning
confidence: 99%
“…1 In-frame mutations in the dystrophin gene also cause a milder form of Becker muscular dystrophy with expression of truncated but partially functional dystrophin proteins. [2][3][4] The amount of dystrophin in Becker muscular dystrophy varies, but can reach 30% or higher of normal levels, in contrast to only a few revertant fibers in the majority of DMD. 5 The DMD gene consists of 79 exons spanning 42.3 million base pairs.…”
Section: Introductionmentioning
confidence: 99%
“…Limb girdle muscular dystrophy (LGMD) is a differential diagnosis to BMD and DMD. By re-screening patients with an initial diagnosis of DMD and BMD, but without verified DMD mutations, we previously identified 11 patients with mutations in the gene for fukutin-related protein (LGMD type 2I) (Schwartz et al, 2005). Such a diagnostic mistake could have serious consequences for prognostic and genetic counselling.…”
Section: Discussionmentioning
confidence: 99%
“…Diseases to consider when making a differential diagnosis include limb-girdle muscular dystrophies [32], EmeryDreifuss muscular dystrophy and dilated cardiomyopathy [33].…”
Section: Diagnostic Settingmentioning
confidence: 99%