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Items: 4

1.
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F. Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath
J Neurol. 2020; 267(12): 3643–3649. Published online 2020 Jul 12. doi: 10.1007/s00415-020-10059-3
PMCID:
PMC7674332
ArticlePDF–1012K
2.
Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xiaobo Xiong, Yu Zhang, Shi Cen, Honghui Li, Shuzhang Wei
BMC Pediatr. 2020; 20: 420. Published online 2020 Sep 3. doi: 10.1186/s12887-020-02309-0
PMCID:
PMC7469303
ArticlePDF–992K
3.
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
JINHO LEE, SUNG-CHUL JUNG, YOUNG BIN HONG, JEONG HYUN YOO, HEASOO KOO, JA HYUN LEE, HYUN DAE HONG, SANG-BEOM KIM, KI WHA CHUNG, BYUNG-OK CHOI
Mol Med Rep. 2016 Jul; 14(1): 33–40. Published online 2016 May 4. doi: 10.3892/mmr.2016.5209
PMCID:
PMC4918608
ArticlePDF–995K
4.
Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review
Bayan Al Othman, Jia Ern Ong, Alina V. Dumitrescu
Genes (Basel) 2022 Jun; 13(6): 1005. Published online 2022 Jun 2. doi: 10.3390/genes13061005
PMCID:
PMC9223020
ArticlePDF–10M

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