Lamins are type V intermediate filament proteins consisting of a N-terminal head domain, a central rod domain, and a C-terminal globular tail. A-type lamins and B-type lamins (lamin B1 and B2) are major components of the nuclear lamina underlying the inner nuclear membrane. LMNA mutations are subsequently identified in patients with autosomal dominant LGMD with atrioventricular conduction disturbances (LGMD1B) (20). To date, the clinical Inhibitors,research,lifescience,medical spectrum caused by mutations in LMNA has expanded to at least 10 heterogeneous diseases listed under laminopathies including EDMD, LGMD, dilated cardiomyopathy with conduction defects (DCM-CD), lipodystrophy, neuropathy, and premature

senescence (21, 22). In contrast to emerinopathy, definitive diagnosis of selleck chem laminopathy is solely undertaken by mutation analysis, since protein analysis would show nearly normal expression and localization of lamin A/C. LMNA contains 12 exons. To date, more than 200 different mutations have been reported Inhibitors,research,lifescience,medical (http://www.umd.be:2000/, http://www.dmd.nl/). Most of the mutations in LMNA Inhibitors,research,lifescience,medical are heterozygous missense mutations and there is no hot spot identified throughout

the gene. In our experience of 13 years inclusion, a total of 47 muscular dystrophy patients were identified associated with nuclear envelopathy. Here, we thoroughly reviewed the clinical, pathological and molecular features of these patients. Mutation screening All human www.selleckchem.com/products/PD-0332991.html samples used in this study were obtained for diagnostic and research purposes with informed consent. All exons and their franking intronic regions of EMD and LMNA were Inhibitors,research,lifescience,medical amplified using genomic DNA extracted from peripheral lymphocytes or skeletal muscle. Direct sequence analysis was performed using the standard method. We identified 20 patients in 17 families with hemizygous mutation in EMD,

and 27 patients in 24 families with heterozygous mutation in LMNA. Mutations identified Inhibitors,research,lifescience,medical in EMD and LMNA are listed in Table ​Table11. Table 1 Mutations of EMD and LMNA identified in our series (*: novel mutations). In EMD, 13 types of mutations were identified including 4 novel mutations. Twelve mutations were nonsense or frame-shift mutations that created premature GSK-3 termination. One patient had a total deletion of the coding region of the gene. All patients showed negative immunostaining for emerin on biopsied muscles. On the other hand, 17 types of mutations in LMNA were identified including 15 missense and 2 nonsense mutations. Six of these were novel mutations. LMNA p.R453W, found in 6 families (25%), is the most common mutation in our series. Clinical features of emerinopathy Clinical attributes of 20 emerinopathy in our series were reviewed. All the patients were male and the age at examination ranged from 6 to 56 years old (mean ± SD = 29.0 ± 16.1). The age at onset of the disease was varied considerably from 2.5 to 37 years old (mean ± SD = 10.1 ± 9.5).