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Quoted phrase not found in phrase index: "Muscular dystrophy, limb-girdle, autosomal recessive 27"
Page 1
Limb-girdle muscular dystrophy in childhood.
Bönnemann CG. Bönnemann CG. Pediatr Ann. 2005 Jul;34(7):569-77. doi: 10.3928/0090-4481-20050701-14. Pediatr Ann. 2005. PMID: 16092631 Review.
LGMD refers to a class of muscular dystrophies with onset in the proximal muscles. They are genetically heterogeneous, with both autosomal recessive and dominant forms. The autosomal recessive forms are more common and in general follow a …
LGMD refers to a class of muscular dystrophies with onset in the proximal muscles. They are genetically heterogeneous, with bo …
Histopathological correlations and fat replacement imaging patterns in recessive limb-girdle muscular dystrophy type 12.
De Wel B, Huysmans L, Depuydt CE, Goosens V, Peeters R, Santos FP, Thal DR, Dupont P, Maes F, Claeys KG. De Wel B, et al. J Cachexia Sarcopenia Muscle. 2023 Jun;14(3):1468-1481. doi: 10.1002/jcsm.13234. Epub 2023 Apr 20. J Cachexia Sarcopenia Muscle. 2023. PMID: 37078404 Free PMC article.
BACKGROUND: Despite the widespread use of proton density fat fraction (PDFF) measurements with magnetic resonance imaging (MRI) to track disease progression in muscle disorders, it is still unclear how these findings relate to histopathological changes in muscle biopsies of patie …
BACKGROUND: Despite the widespread use of proton density fat fraction (PDFF) measurements with magnetic resonance imaging (MRI) to track dis …
Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene.
Cali-Daylan AE, Dincer P. Cali-Daylan AE, et al. Neuromuscul Disord. 2017 Mar;27(3):269-277. doi: 10.1016/j.nmd.2016.10.011. Epub 2016 Nov 3. Neuromuscul Disord. 2017. PMID: 28110863
Dysferlinopathy, caused by a dysferlin gene mutation, is a clinically heterogeneous autosomal recessive muscle disease characterized by progressive muscle degeneration. ...Out of the hub genes, OXR1 and TIMP1 were selected through literature search as candidate gene …
Dysferlinopathy, caused by a dysferlin gene mutation, is a clinically heterogeneous autosomal recessive muscle disease charact …
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F. Louhichi N, et al. Neurogenetics. 2004 Feb;5(1):27-34. doi: 10.1007/s10048-003-0165-9. Epub 2003 Dec 2. Neurogenetics. 2004. PMID: 14652796 Free PMC article.
The congenital muscular dystrophies (CMD) constitute a clinically and genetically heterogeneous group of autosomal recessive myopathies. ...FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe con …
The congenital muscular dystrophies (CMD) constitute a clinically and genetically heterogeneous group of autosomal r …
Descriptive epidemiology of selected neuromuscular disorders in Benghazi, Libya.
Radhakrishnan K, el-Mangoush MA, Gerryo SE. Radhakrishnan K, et al. Acta Neurol Scand. 1987 Feb;75(2):95-100. doi: 10.1111/j.1600-0404.1987.tb07901.x. Acta Neurol Scand. 1987. PMID: 3472424
A 3-year intensive search for selected neuromuscular disorders in Benghazi, yielded 34 patients with Duchenne's muscular dystrophy (25 index cases), 19 with limb-girdle muscular dystrophy (13 index cases), 4 with facioscapulohumeral mu …
A 3-year intensive search for selected neuromuscular disorders in Benghazi, yielded 34 patients with Duchenne's muscular dystrophy …
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST. Riley LG, et al. Eur J Hum Genet. 2019 Aug;27(8):1267-1273. doi: 10.1038/s41431-019-0393-6. Epub 2019 Apr 25. Eur J Hum Genet. 2019. PMID: 31024060 Free PMC article.
Both sisters presented in their twenties with slowly progressive limb girdle weakness, severe systolic dysfunction, and progressive, severe respiratory weakness. ...However a few rare cases of autosomal recessive desminopathy are reported. In this fami …
Both sisters presented in their twenties with slowly progressive limb girdle weakness, severe systolic dysfunction, and progre …