The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
暂无分享,去创建一个
A. Kan | B. Chung | K. Leung | M. Yu | C. Fung | Hencher Han-Chih Lee | M. Tsang | Kit San Yeung | G. Fung | Sophelia H S Chan | F. Yu | J. Fung | Kelvin Y. K. Chan | S. Fung | S. Wong | W. Chung | Yun Ting Lee | V. Ng
[1] Hencher Han-Chih Lee,et al. Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese. , 2019, Journal of neuropathology and experimental neurology.
[2] Y. Chien,et al. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese , 2019, npj Genomic Medicine.
[3] C. Wallgren‐Pettersson,et al. Nemaline myopathies: a current view , 2019, Journal of Muscle Research and Cell Motility.
[4] B. Chung,et al. A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35. , 2019, Parkinsonism & related disorders.
[5] C. Ottenheijm,et al. Sarcomere Dysfunction in Nemaline Myopathy , 2017, Journal of neuromuscular diseases.
[6] P. Sham,et al. CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis , 2016, Molecular genetics & genomic medicine.
[7] D. Massalska,et al. Prenatal diagnosis of congenital myopathies and muscular dystrophies , 2016, Clinical genetics.
[8] Wai Lam,et al. G.P.307 Congenital myopathies: Characteristics and subtypes in Hong Kong , 2015, Neuromuscular Disorders.
[9] C. Pu,et al. Clinical and pathological features of patients with nemaline myopathy. , 2014, Molecular medicine reports.
[10] E. Bertini,et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. , 2013, American journal of human genetics.
[11] B. Eijckelhof,et al. Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). , 2009, Early human development.
[12] B. Rubin,et al. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene , 2004, Human Genetics.
[13] E. Mulder,et al. Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy , 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[14] D. Figarella-Branger,et al. Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis , 1998, Fetal Diagnosis and Therapy.
[15] H. Holzhausen,et al. [Nemaline myopathy]. , 1991, Der Pathologe.
[16] W. Engel,et al. NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY. , 1963, Brain : a journal of neurology.