PMID- 30065953
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220318
IS  - 2376-7839 (Print)
IS  - 2376-7839 (Electronic)
IS  - 2376-7839 (Linking)
VI  - 4
IP  - 4
DP  - 2018 Aug
TI  - Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber 
      hypertrophy.
PG  - e254
LID - 10.1212/NXG.0000000000000254 [doi]
LID - e254
AB  - OBJECTIVE: To describe the long-term clinical follow-up in 3 siblings with 
      Carey-Fineman-Ziter syndrome (CFZS), a form of congenital myopathy with a novel 
      mutation in the myomaker gene (MYMK). METHODS: We performed clinical 
      investigations, repeat muscle biopsy in 2 of the siblings at ages ranging from 11 
      months to 18 years, and whole-genome sequencing. RESULTS: All the siblings had a 
      marked and characteristic facial weakness and variable dysmorphic features 
      affecting the face, hands, and feet, and short stature. They had experienced 
      muscle hypotonia and generalized muscle weakness since early childhood. The 
      muscle biopsies revealed, as the only major abnormality at all ages, a marked 
      hypertrophy of both type 1 and type 2 fibers with more than twice the diameter of 
      that in age-matched controls. Genetic analysis revealed biallelic mutations in 
      the MYMK gene, a novel c.235T>C; p.(Trp79Arg), and the previously described 
      c.271C>A; p.(Pro91Thr). CONCLUSIONS: Our study expands the genetic and clinical 
      spectrum of MYMK mutations and CFZS. The marked muscle fiber hypertrophy 
      identified from early childhood, despite apparently normal muscle bulk, indicates 
      that defective fusion of myoblasts during embryonic muscle development results in 
      a reduced number of muscle fibers with compensatory hypertrophy and muscle 
      weakness.
FAU - Hedberg-Oldfors, Carola
AU  - Hedberg-Oldfors C
AD  - Department of Pathology and Genetics (C.H.-O., A.O.), Sahlgrenska Academy, 
      University of Gothenburg, and Department of Neurology (C.L.), Neuromuscular 
      Center, Sahlgrenska University Hospital, Gothenburg, Sweden.
FAU - Lindberg, Christopher
AU  - Lindberg C
AD  - Department of Pathology and Genetics (C.H.-O., A.O.), Sahlgrenska Academy, 
      University of Gothenburg, and Department of Neurology (C.L.), Neuromuscular 
      Center, Sahlgrenska University Hospital, Gothenburg, Sweden.
FAU - Oldfors, Anders
AU  - Oldfors A
AD  - Department of Pathology and Genetics (C.H.-O., A.O.), Sahlgrenska Academy, 
      University of Gothenburg, and Department of Neurology (C.L.), Neuromuscular 
      Center, Sahlgrenska University Hospital, Gothenburg, Sweden.
LA  - eng
PT  - Journal Article
DEP - 20180723
PL  - United States
TA  - Neurol Genet
JT  - Neurology. Genetics
JID - 101671068
PMC - PMC6066360
EDAT- 2018/08/02 06:00
MHDA- 2018/08/02 06:01
PMCR- 2018/07/23
CRDT- 2018/08/02 06:00
PHST- 2018/01/20 00:00 [received]
PHST- 2018/05/07 00:00 [accepted]
PHST- 2018/08/02 06:00 [entrez]
PHST- 2018/08/02 06:00 [pubmed]
PHST- 2018/08/02 06:01 [medline]
PHST- 2018/07/23 00:00 [pmc-release]
AID - NG2018007427 [pii]
AID - 10.1212/NXG.0000000000000254 [doi]
PST - epublish
SO  - Neurol Genet. 2018 Jul 23;4(4):e254. doi: 10.1212/NXG.0000000000000254. 
      eCollection 2018 Aug.