Abstract:
BACKGROUND:The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystrophinopathy, which is the most common form of muscular dystrophy. PATIENTS:Both siblings had very high levels of creatinine phosphokinase and negative molecular tests for deletions and duplications of the dystrophin gene. The older boy presented at 8 years of age with an inability to climb steps and an abnormal gait. His younger brother was 5 years old and had similar symptoms. The muscle biopsy evaluation was performed only in the older brother. RESULTS:The muscle biopsy showed dystrophic features as well as a deficiency in the expression of two different glycoproteins: the alpha sarcoglycan and the gamma sarcoglycan. Sarcolemmal expressions of dystrophin and other sarcoglycans (beta and delta) were diffusely present. DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.226 C > T (p.L76 F)] in exon 3 in the sarcoglycan alpha genes of both siblings. Similar heterozygous point mutations at the same locus were found in both parents, but the genes of beta, delta, and gamma sarcoglycan were normal in the remaining family members. CONCLUSIONS:We describe two siblings with limb-girdle muscular dystrophy type 2D with a novel missense mutation. These patients illustrate that the differential diagnosis of muscular dystrophies is impossible with clinical findings alone. Therefore, a muscle biopsy and DNA analysis remain essential methods for diagnosis of muscle diseases.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Diniz G,Tosun Yildirim H,Akinci G,Hazan F,Ozturk A,Yararbas K,Tukun Adoi
10.1016/j.pediatrneurol.2013.12.024subject
Has Abstractpub_date
2014-06-01 00:00:00pages
640-7issue
6eissn
0887-8994issn
1873-5150pii
S0887-8994(14)00073-3journal_volume
50pub_type
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journal_title:Pediatric neurology
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journal_title:Pediatric neurology
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journal_title:Pediatric neurology
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更新日期:2008-01-01 00:00:00
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journal_title:Pediatric neurology
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journal_title:Pediatric neurology
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journal_title:Pediatric neurology
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journal_title:Pediatric neurology
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journal_title:Pediatric neurology
pub_type: 杂志文章
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更新日期:2013-03-01 00:00:00
abstract:AIM:We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS...
journal_title:Pediatric neurology
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