Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

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Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Importance of Skin Changes in ...... ngenital Muscular Dystrophies.

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Importance of Skin Changes in ...... ngenital Muscular Dystrophies.

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Importance of Skin Changes in ...... ngenital Muscular Dystrophies.

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Importance of Skin Changes in ...... ngenital Muscular Dystrophies.

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Figen Baydan

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Mert Karakaya

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Sebahattin Cirak

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Semra Hız Kurul

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Uluç Yis

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P2860

Diagnostic approach to the congenital muscular dystrophies.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

Elucidation of human choline kinase crystal structures in complex with the products ADP or phosphocholine.

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.

A new congenital muscular dystrophy with mitochondrial structural abnormalities.

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3128735

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scholarly article

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10.1155/2016/3128735

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English

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2016

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2016-03-31T00:00:00Z

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birth defect

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4830701

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Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

about

P2860

P2860

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

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