Limb-girdle type muscular dystrophy
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy
... of muscular dystrophy such as Duchenne and Becker muscular dystrophies, limb-girdle muscular dystrophies type 2A and 2B, myotonic dystrophy type 1 and ...
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Attenuated Ca2+ release in a mouse model of limb girdle muscular dystrophy 2A
... cause limb girdle muscular dystrophy type 2A (LGMD2A), a progressive muscle wasting ...advanced muscular dystrophy, which prevented us from establishing whether impaired ...
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Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b
... 3. Liu, J., Aoki, M., Illa, I., Wu, C., Fardeau, M., Angelini, C., Serrano, C., Urtizberea, J. A., Hentati, F., Hamida, M. B., Bohlega, S., Culper, E. J., Amato, A. A., Bossie, K., Oeltjen, J., Bejaoui, K., ...
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Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies
... Becker muscular dystrophy (BMD) (age 31 ± 16 years) and five patients with limb-girdle muscular dystrophy type 2I (LGMD2I) (age 27 ± 12 years) who were com- pound ...
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A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
... type 2I: two Chinese families and a review in Asian patients. Int J Neurosci 2018;128:199–207. 5. Mathews KD, Stephan CM, Laubenthal K, et al. Myoglobinuria and muscle pain are common in patients with ...
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ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
... examination, at the age of 42 years, he showed mild weakness at the neck flexors (MRC: 4) with moderate proximo-distal weakness at all four limbs (MRC: del- toids 3, brachial biceps 4, triceps 3, wrist extensors/ flexors ...
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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
... Disease-causing mutations classified based on American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) guidelines were identified in 76 % of the study cohort (38/50 families). Novel mu- ...
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Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report
... Limb girdle muscular dystrophy type 2B is a rare subtype of muscular dystrophy, the predominant feature of which is muscle ...of muscular dystrophy and ...
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A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies
... wild- type open reading frame (ORF) or a separate transgenic line that carried the FKRP (L276I) ...other muscular dystrophies to identify personalized therapeutic drug ...
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Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity
... and muscular dystrophies, although there are rare exceptions to this (for example, centronuclear muscular dystrophy caused by impaired cohesion of the centrosome) ...
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Cardioembolic stroke related to limb girdle muscular dystrophy 1B
... Given the myopathic features with mild contracture, cardiac arrhythmia and dilated cardiomyopathy, and also positive family history, LMNA related muscular dystro- phies was highly suspected. For further genetic ...
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Congenital myasthenic syndromes
... Musk MUSK encodes for a protein that is involved in endplate maturation, maintenance of the endplate func- tions, proper functioning of rapsyn, and functioning of the AchR [24]. MUSK forms a co-receptor for agrin with ...
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MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples
... underlying muscular dystrophies, congeni- tal myopathies, metabolic myopathies, congenital muscular dystrophies, Emery-Dreifuss muscular dystrophy, ...myotonic dystrophy, spinal ...
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The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
... congenital muscular disorders [46], and it should be carefully considered when diagnosing ...Duchenne muscular dystrophy (DMD) with long bone fractures and a patent foramen ovale have been reported ...
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The role of muscle ultrasound in helping the clinical diagnosis of muscle diseases
... Patients with delayed milestones (n = 11) included 3 females and 8 males. Four patients were diagnosed as definite Duchenne muscular dystrophy and one with definite myotonic dystrophy. Other patients ...
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Clinical Reasoning: A 38-year-old man with respiratory failure and progressive leg weakness
... dystrophy 2A and limb-girdle muscular dystrophy 2C–2F can all produce proximal weakness and respi- ratory failure. HMERF, Pompe, and LGMD2I are more likely to involve respiratory ...
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... neuro- muscular junctions from the central to peripheral nervous system may be affected and that electromyography exam- ination for patients with GMPPB mutations should include repetitive nerve stimulation ...
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Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report
... tion is present in parents with a heterozygous position and we conclude inheritance pattern is autosomal recessive. Parent of our case are carrier and they have a 25% chance for an affect- ed child, a 50% chance of being ...
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Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy
... miR-133a, and miR-206, in the serum were used as novel biomarkers in the dystrophin-deficient muscular dystrophy mouse models, as well as the canine X-linked muscular dystrophy in Japan dog ...
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Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I
... short axis cine images using semi-automated Vector Velocity Imaging (VVI) feature tracking software (Sie- mens, Mountain View, CA). Initially developed for seg- mentation of echocardiographic images through speckle ...
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