To the Editor:Mutations in the dysferlin(DYSF)gene lead to dysferlinopathy,which is referred to as a group of muscular dystrophies with autosomal recessive inheri-tance.Dysferlinopathy includes Miyoshi myopathy(MM),li...To the Editor:Mutations in the dysferlin(DYSF)gene lead to dysferlinopathy,which is referred to as a group of muscular dystrophies with autosomal recessive inheri-tance.Dysferlinopathy includes Miyoshi myopathy(MM),limb-girdle muscular dystrophy(LGMD2B),and other atypical phenotypes,such as the“proximo-distal(PD)”phenotype and distal anterior compartment myopathy.Currently.the genotype-phenotype correlation in the majority of patients remains unclear.展开更多
To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-enco...To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-encoded DUX4 retrogene in skeletal muscle.[1]The core phenotype of FSHD is progressive muscle weakness in such body parts as the face,shoulder girdle,and upper limbs.Additionally,FSHD may affect the axial muscles and produce bent spine syndrome.Several studies have reported that FSHD2 is associated with causative variants in SMCHD1,[1,2]but to the best of our knowledge,no Chinese FSHD2 patient has been reported.In this report,we presented a Chinese FSHD2 family with D4Z4 hypomethylation and identified a novel start codon variant(c.1 A>G)in SMCHD1.This study was approved by the Ethics Committee for Medical Research of the First Affiliated Hospital of Fujian Medical University(No.2016[17]).Informed consent was obtained from each partici-pant and parent of the participant younger than 18 years of age.展开更多
基金This study was supported by grants from the National Natural Science Foundation of China(No.81701242)the Joint Fund for Program of Science Innovation of Fujian Province,China(No.2018Y9079)the National Natural Science Foundation of Fujian Province,China(No.2019J05079).
文摘To the Editor:Mutations in the dysferlin(DYSF)gene lead to dysferlinopathy,which is referred to as a group of muscular dystrophies with autosomal recessive inheri-tance.Dysferlinopathy includes Miyoshi myopathy(MM),limb-girdle muscular dystrophy(LGMD2B),and other atypical phenotypes,such as the“proximo-distal(PD)”phenotype and distal anterior compartment myopathy.Currently.the genotype-phenotype correlation in the majority of patients remains unclear.
基金the National Natural Science Foundation of China(Nos.81671237,81974193).
文摘To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-encoded DUX4 retrogene in skeletal muscle.[1]The core phenotype of FSHD is progressive muscle weakness in such body parts as the face,shoulder girdle,and upper limbs.Additionally,FSHD may affect the axial muscles and produce bent spine syndrome.Several studies have reported that FSHD2 is associated with causative variants in SMCHD1,[1,2]but to the best of our knowledge,no Chinese FSHD2 patient has been reported.In this report,we presented a Chinese FSHD2 family with D4Z4 hypomethylation and identified a novel start codon variant(c.1 A>G)in SMCHD1.This study was approved by the Ethics Committee for Medical Research of the First Affiliated Hospital of Fujian Medical University(No.2016[17]).Informed consent was obtained from each partici-pant and parent of the participant younger than 18 years of age.
