Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).</p><p><b>METHODS</b>Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene. Haplotype analysis was performed after the identification of mutation.</p><p><b>RESULTS</b>The proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. Muscular pathology revealed myopathic changes combined with slight neuropathic changes. A heterozygous missense mutation 1583 (C to G)(T528R) was identified in exon 9 of the LMNA gene in the two patients, but not in other family members. Haplotype analysis indicated that the proband and her daughter shared the same causative haplotype.</p><p><b>CONCLUSION</b>This is the first report of the phenotype and genotype of AD-EDMD in Chinese.</p>

Analysis of clinical and molecular pathology in 8 patients of Chinese dysferlinopathy / 中华神经科杂志

Objective To investigate the clinical and molecular pathological features of dysferlinopathy in China.Methods Four patients with limb-girdle muscular dystrophy2B(LGMD2B)and 4 patients with Miyoshi-type distal muscular dystrophy(MMD)were clinically analyzed, their skeletal muscle were biopsied and immunohistochemical stained.Four cases of each Duchenne-Aran muscular atrophy and myotis were served as controls.Results The clinical situation of dysferlinopathy was characterized by progressive muscle weakness and atrophy, consistent with progressive muscular dystrophy.Histochemical staining revealed muscle fibers degenerating, regenerating and necrosis in a varying degree.Connective tissue was seen proliferated and inflammatory cells infiltrated in the majority of cases.Immunohistochemical staining with anti-dysferlin monoclonal antibody identified the deficiency of dysferlin on the sarcolemma and in the sarcoplasm of 8 cases with dysferlinopathy.Conclusions(1)The clinical and pathological characters of dysferlinopathy are consistent with progressive muscular dystrophy;(2)Anti-dysferlin monoclonal antibody immunohistochemical staining is a reliable method to diagnose dysferlinopathy, which is worth of wide application in clinic.