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Quoted phrase not found in phrase index: "Autosomal recessive limb-girdle muscular dystrophy type 2K"
Page 1
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
Walker-Warburg syndrome.
Vajsar J, Schachter H. Vajsar J, et al. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. Orphanet J Rare Dis. 2006. PMID: 16887026 Free PMC article. Review.
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. ...WWS presents at birth with generalized hypotonia, muscle weakness, developmental dela …
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrop …
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.
Reed UC. Reed UC. Arq Neuropsiquiatr. 2009 Mar;67(1):144-68. doi: 10.1590/s0004-282x2009000100038. Arq Neuropsiquiatr. 2009. PMID: 19330236 Free article. Review.
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early o …
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with prefere …
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.
Reed UC. Reed UC. Arq Neuropsiquiatr. 2009 Jun;67(2A):343-62. doi: 10.1590/s0004-282x2009000200035. Arq Neuropsiquiatr. 2009. PMID: 19547838 Free article. Review.
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early o …
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with prefere …
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Brown SC, Fernandez-Fuente M, Muntoni F, Vissing J. Brown SC, et al. J Neuropathol Exp Neurol. 2020 Dec 4;79(12):1257-1264. doi: 10.1093/jnen/nlaa120. J Neuropathol Exp Neurol. 2020. PMID: 33051673 Review.
In patients, the mutation at the homozygous state is associated with a severe congenital muscular dystrophy phenotype invariably characterized by severe multisystem disease and early death. Compound heterozygous patients have a severe limb-girdle mu …
In patients, the mutation at the homozygous state is associated with a severe congenital muscular dystrophy phenotype invariab …
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
Zhao X, Gao C, Li L, Jiang L, Wei Y, Che F, Liu Q. Zhao X, et al. Int J Dev Neurosci. 2023 Feb;83(1):23-30. doi: 10.1002/jdn.10233. Epub 2022 Nov 7. Int J Dev Neurosci. 2023. PMID: 36217604
OBJECTIVE: Mutations in protein O-mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker-Warburg syndrome (WWS) and milder limb-girdle muscular dystrophy …
OBJECTIVE: Mutations in protein O-mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dy …
Dysmyelinating and demyelinating conditions in infancy.
Kolodny EH. Kolodny EH. Curr Opin Neurol Neurosurg. 1993 Jun;6(3):379-86. Curr Opin Neurol Neurosurg. 1993. PMID: 8507907 Review.
The synthesis of a particular myelin protein can be defective, as occurs for proteolipid protein in Pelizaeus-Merzbacher disease and for myelin basic protein in the 18q- syndrome. Delay in myelination with a more generalized diminution in white matter is characteristic of …
The synthesis of a particular myelin protein can be defective, as occurs for proteolipid protein in Pelizaeus-Merzbacher disease and for mye …
Syndromes, disorders and maternal risk factors associated with neural tube defects (V).
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. Taiwan J Obstet Gynecol. 2008. PMID: 18935987 Free article. Review.
This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy, MURCS association, Roberts syndrom …
This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, …
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H. Hu P, et al. J Cell Mol Med. 2017 Jul;21(7):1388-1393. doi: 10.1111/jcmm.13068. Epub 2017 Feb 3. J Cell Mol Med. 2017. PMID: 28157257 Free PMC article.
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy acco …
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, …
Walker-Warburg syndrome variant.
Pabuşçu Y, Bulakbasi N, Kocaoğlu M, Uçöz T. Pabuşçu Y, et al. Comput Med Imaging Graph. 2002 Nov-Dec;26(6):453-8. doi: 10.1016/s0895-6111(02)00026-5. Comput Med Imaging Graph. 2002. PMID: 12453509
A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscular dystrophy died at the age of 3 months presented with neonatal apneic periods and generalized seizures. ...
A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscul …
66 results