sameAs
Fukuyama Congenital Muscular DystrophyThe Fukuyama congenital muscular dystrophy story[Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].Fukuyama congenital muscular dystrophy: a neuroradiologic review.Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophyBrain MR in Fukuyama congenital muscular dystrophy.Respiratory management of patients with Fukuyama congenital muscular dystrophy.Prenatal diagnosis of Fukuyama congenital muscular dystrophy.Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophyNovel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin.Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis.Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases.Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy.Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD).Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus.A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms.A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child.A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.Fukuyama congenital muscular dystrophy in two Australian female siblings.[The whole story of discovery of Fukuyama congenital muscular dystrophy].Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.Spinal fusion in a patient with Fukuyama congenital muscular dystrophy.The gross motor function measure is valid for Fukuyama congenital muscular dystrophy.Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study.Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy.MRI findings in Fukuyama congenital muscular dystrophy: a rare case report.Spinal correction in patients with Fukuyama congenital muscular dystrophy.Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation.Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains.Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy.Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy.Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy.Fukutin mutations in Fukuyama congenital muscular dystrophy do not cause noncompaction.Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.[Pathomechanism and therapeutic strategy of Fukuyama congenital muscular dystrophy and related disorders].
P921
Q26827080-0676E65D-0555-4FBE-B4EE-F61F3B2282D3Q28139770-B1FBE416-B2F9-4D46-BA8C-AD3C4A835CC2Q31044887-D80ECD58-81B2-4468-91C9-93467562AC5DQ32066287-F3A5A3E8-1ED8-4BEC-A533-698008C22E18Q34149744-170F615E-1699-40D1-98C1-7A984041D04CQ34390453-AB4C2816-B61A-478A-AEC7-19BEB67EB688Q34493850-7B127F63-90BB-4B59-881D-2AB270964990Q36434498-06FD1C50-3CAF-4C7D-88AA-496D336CBF47Q36791115-AA803B8B-DF37-43ED-BB1A-DDB84EFE6FE7Q37580727-DFC2488D-C5E7-4C7B-8304-956F2A14A629Q40422702-45376111-9555-41FB-99E2-2B79570AF725Q41253593-89AF78F0-033F-45E3-83A8-08F36D9FA85DQ41833665-F4F36676-6181-499B-9ED1-77B277BFB0A6Q42439618-C2B55B5C-B323-4880-873A-C0615A32BBFDQ42517399-A6546CF0-8E88-4837-91FE-DDB0C58ECE35Q42526357-042A2B58-BDD5-4F60-862F-4E5E9647168BQ42769994-F75E9AF8-7271-4E60-BBA6-986F81243B90Q43813529-02835A89-CE0F-4D42-8E48-681C688E408AQ43979302-A3DC1AF0-A1EC-4129-8CFC-5E534B701B06Q44419465-74725105-0554-4EE7-B0BF-3980D9F7D0A1Q44560110-0C8064F8-0109-42AF-B440-70F77092BF1CQ46797674-7E62C7A8-B433-46F5-930F-65329A0A60CBQ47725310-BDCA8FF5-8DDB-428C-B5E1-D5F125C65809Q47752900-20BBD177-EF31-414B-990F-966D89A90386Q47886073-BD705808-81C0-4DBD-A952-F4CD2B1B54E8Q48210154-D75CF89F-0FB2-42D4-8005-7C6CA0B07704Q48260397-81558E80-78C3-44D5-9D85-DB5D21017732Q48277389-A4D18706-35D0-4A81-BA8D-C196989AF987Q48514598-5858FE68-0307-4EC8-ACCD-FBE20F0E1A85Q48535266-E007DB63-5EBA-4CA4-A06F-F9A2226BFE3CQ48621125-A651F5DC-2704-4879-8882-F5D6B8514227Q48651469-BF04B322-8030-4845-B385-E9D7FB9D1471Q48656802-06ED27C7-26D9-462A-BA9E-204799D1CC68Q48676665-6088E799-F0D0-43FF-8391-7D5F47A4952AQ48686619-2F746AD7-82BB-4F6D-9E27-7D3110AD1C92Q48942999-3F3BF46D-B615-4728-83B7-5E1A5B47C81EQ49092162-38A7B070-5423-49EB-9AE9-9360E13C3247Q51418471-E70D1846-74F2-471B-9F62-CF5D6C6C7959Q52021931-0A2B5E02-67BE-4BF8-8896-1C3F32409B0FQ53352609-7915745C-FF25-4C60-A960-67DDC7C019E0
P921
description
Human disease
@en
Krankheit
@de
مرض يصيب الإنسان
@ar
name
Fukuyama congenital muscular dystrophy
@en
Muskeldystrophie Typ Fukuyama
@de
Wrodzona dystrofia mięśniowa Fukuyamy
@pl
distrofia muscular congénita de Fukuyama
@es
syndrome de Fukuyama
@fr
福山型先天性筋ジストロフィー
@ja
type
label
Fukuyama congenital muscular dystrophy
@en
Muskeldystrophie Typ Fukuyama
@de
Wrodzona dystrofia mięśniowa Fukuyamy
@pl
distrofia muscular congénita de Fukuyama
@es
syndrome de Fukuyama
@fr
福山型先天性筋ジストロフィー
@ja
altLabel
Cerebromuscular dystrophy, Fukuyama type
@en
Dystrofia mięśniowa Fukuyamy
@pl
FCMD
@de
FCMD
@en
FCMD
@es
Fukuyama type muscular dystrophy
@en
Kongenitale Muskeldystrophie Typ Fukuyama
@de
MDDGA4
@en
Muscular dystrophy, congenital progressive, with mental retardation
@en
Muscular dystrophy, congenital, Fukuyama type
@en
prefLabel
Fukuyama congenital muscular dystrophy
@en
Muskeldystrophie Typ Fukuyama
@de
Wrodzona dystrofia mięśniowa Fukuyamy
@pl
distrofia muscular congénita de Fukuyama
@es
syndrome de Fukuyama
@fr
福山型先天性筋ジストロフィー
@ja
P279
P2888
P6366
P646
P138
P1748
P2293
P492
P5270
MONDO:0023204
P6366
2777684323
P646
P699
DOID:0050559