Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Lazar, Csilla H; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben-Simhon, Shiran; Obolensky, Alexey; Ben-Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks-Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand

Lazar, Csilla H; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben-Simhon, Shiran; Obolensky, Alexey; Ben-Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks-Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand.

Afiliação

Lazar CH; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Kimchi A; Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, Romania.
Namburi P; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Mutsuddi M; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Zelinger L; Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
Beryozkin A; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Ben-Simhon S; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Obolensky A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Ben-Neriah Z; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Argov Z; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Pikarsky E; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Fellig Y; Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Marks-Ohana D; Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Ratnapriya R; Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Sharon D; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Swaroop A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Hum Mutat ; 36(9): 836-41, 2015 Sep.

Article em En | MEDLINE | ID: mdl-26077327

Assuntos

Consanguinidade; Proteínas de Membrana/genética; Proteínas Musculares/genética; Distrofia Muscular do Cíngulo dos Membros/genética; Mutação; Proteínas/genética; Retinose Pigmentar/genética; Proteínas de Ciclo Celular; Análise Mutacional de DNA; Disferlina; Feminino; Estudos de Associação Genética; Humanos; Masculino; Músculo Esquelético/metabolismo; Músculo Esquelético/patologia; Distrofia Muscular do Cíngulo dos Membros/diagnóstico; Linhagem; Fenótipo; Retina/patologia; Retinose Pigmentar/diagnóstico

Palavras-chave

ALMS1; DYSF; photoreceptor; pleiotropic phenotypes; retinal degeneration; vision loss

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Retinose Pigmentar / Consanguinidade / Distrofia Muscular do Cíngulo dos Membros / Proteínas de Membrana / Proteínas Musculares / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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