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[PDF] Top 20 LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE

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LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE

LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE

... Primary muscle disease is the most fre- quent cause of progressive muscular weak-. ness in children with neuromuscular disor-[r] ... See full document

5

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy

... Muscular dystrophies are classified in accordance with their clinical and pathological features [6, 7]. Among them, DMD (OMIM310200) and BMD (OMIM 300376) are caused by various mutations in the dystrophin gene on ... See full document

7

Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report

Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report

... He had tight long flexors of his arms, hamstrings and gastrocnemius, but no swelling or restriction of his joints. Hyperpigmented patches were noted over the right knee and right thigh, but no rashes were seen; again ... See full document

6

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

... Background: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle ... See full document

14

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

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 ... See full document

5

Attenuated Ca2+ release in a mouse model of limb girdle muscular dystrophy 2A

Attenuated Ca2+ release in a mouse model of limb girdle muscular dystrophy 2A

... Ca 2+ triggers muscle contraction and regulates several signaling pathways that subsequently control downstream gene expression necessary for proper muscle remodeling, which in turn allow muscles to match gene expression ... See full document

15

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

... of muscular dystrophies, my- opathies, and other neuromuscular disorders encompass- ing more than 300 diseases to date ...underlying muscular dystrophies and congenital ... See full document

7

Limb-girdle Muscular Dystrophy with New Mutation in  Sarcoglycan Beta Gene: A Case Report

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 ... See full document

5

Clinical Reasoning: A 38-year-old man with respiratory failure and progressive leg weakness

Clinical Reasoning: A 38-year-old man with respiratory failure and progressive leg weakness

... disease, limb- girdle muscular dystrophy 2I (LGMD2I), hereditary myopathy with early respiratory failure (HMERF), my- otilinopathy, and occasionally limb-girdle ... See full document

6

The role of cell transplantation in modifying the course of limb girdle muscular dystrophy: a longitudinal 5-year study

The role of cell transplantation in modifying the course of limb girdle muscular dystrophy: a longitudinal 5-year study

... Abstract: Limb girdle muscular dystrophy (LGMD), a group of progressive degenerative disorders, causes functional limitation affecting the quality of ... See full document

10

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

... Sarcoglycanopathies in humans are rare genetic disor- ders, with an incidence of one in every 178,000 human births [26]. To date, only small animal models are avail- able for study: gene-targeted mouse models for α-, β-, ... See full document

10

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity

... In general, muscle damage leads to activation of quies- cent satellite cells residing between the sarcolemma and basal lamina. Once the satellite cell has fused with the myofiber, its nucleus migrates to the site ... See full document

10

Satellite cell senescence underlies myopathy in a mouse model of limb girdle muscular dystrophy 2H

Satellite cell senescence underlies myopathy in a mouse model of limb girdle muscular dystrophy 2H

... hind limb unloading for 5 days by placing an animal in a harness so that the feet of the hind limbs did not contact the cage floor, as described previ- ously (76, ...hind limb suspension followed by ... See full document

14

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

... of limb-girdle muscular dystrophy or congenital myopathy (Additional file 2: Table S2) and compared with data from whole exome sequencing (WES) (Figure ... See full document

13

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... Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese ... See full document

6

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

... to muscular dystrophy, exacer- bated by exercise ...and its inter- action with MARP2, a stress-response transcriptional regulator protein, in close proximity to calpain 3 on the N2A region of ... See full document

11

Effect of cellular therapy in a case of limb girdle muscular dystrophy

Effect of cellular therapy in a case of limb girdle muscular dystrophy

... The ethical principle behind patient selection to provide this intervention was based on the World Medical Association Declaration of Helsinki: Ethical Principles for Medical Research Involving Human Subjects (14) The ... See full document

5

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

... IVS5. Its effect was in- vestigated through transcript analysis, which revealed the production of two different transcripts: the wild- type transcript, and a shorter transcript corresponding to an isoform with ... See full document

8

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b

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., ... See full document

28

Clinical Reasoning: A 33-year-old man with cardiomyopathy and myopathy

Clinical Reasoning: A 33-year-old man with cardiomyopathy and myopathy

... Duchenne muscular dystrophy, limb-girdle muscular dystrophies (LGMD, particularly 2I and 2C-F), McLeod syndrome, lipid and glycogen storage disorders, myotonic dystrophies, nemaline ... See full document

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